Overview

The Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex (BEEC) is a rare birth defect, where vital organs and body systems, such as the urinary, genital, and musculoskeletal systems situated around the abdominal midline region are malformed during foetal development.^1-3 It is more common in boys than girls, affecting one in 10,000 births. Primary treatment involves surgery which is performed in phases. In addition, patients require a multi-disciplinary approach of management to improve quality of life.⁴

What is the Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex?

The Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex is also known as the Bladder-Exstrophy-Epispadias Complex (BEEC) or the Exstrophy-Epispadias Complex (EEC).⁵ As mentioned before, the Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex, which will further referred to as the BEEC, affects the formation of the abdominal midline region, and affects the development of various organs and body systems including:⁴

• Urinary system
• Musculoskeletal system
• Pelvis
• Abdominal wall
• Genitalia
• Spine
• Anus

The BEEC is part of a spectrum consisting of different levels of severity in which the malformations prenatally develop. Each individual (baby) can experience different severity levels, and the BEEC spectrum will be discussed in further detail in the next section.⁴

Symptoms of the BEEC spectrum

The BEEC spectrum looks at the components of the complex in further detail. As the complex name suggests, it consists of three disorders, including bladder exstrophy, epispadias and cloacal exstrophy. In addition, the BEEC can be divided into two categories, typical and atypical BEEC.⁶

Typical BEEC

The typical BEEC is defined as the classical form of BEEC, even though it is a rare disorder. This includes epispadias, bladder exstrophy of the bladder and cloacal exstrophy.

Epispadias

Epispadias is a minor part of the BEEC spectrum, affecting 1 in 117,000 in boys and 1 in 484,000 in females.⁵ It is a birth defect in which there is a malformation in the development of the urethra (the tube that carries urine from the bladder to the outside of the body). Furthermore, in terms of genitals, for girls, the clitoris and labia are split. On the other hand, boys can experience different types of epispadias, such as:⁷

• Glandular epispadias is the mildest form of epispadias, in which the urethra is not fully developed into a cylindrical tub and has a top opening. In this type of epispadias, the malformed urethra is positioned near the tip of the penis.
• Penopubic epispadias is the most severe form of epispadias for boys as this is where the malformed urethra is located near the pubic bone or abdomen area.

Bladder Exstrophy

The definition of exstrophy is ‘turned inside out’. Therefore, bladder exstrophy is where the bladder is located outside of the baby’s stomach due to the skin in this area not forming properly. Or in other words, the bladder is externally exposed to the environment. Bladder exstrophy also known as classical bladder exstrophy (CBE) is an abnormality of the lower part of the stomach, affecting 1 in 37,000.⁵ It is the most common type of the BEEC.¹ According to the Great Ormond Street Hospital for Children’s website, bladder exstrophy also affects the:⁷

• Urethra: Not fully developed as a cylindrical tube as it is opened along the top, similar to what is seen in epispadias.
• Pelvic bone: the hip bone, sacrum (forms part of the back of the pelvic wall that stabilises the pelvis) and coccyx (also known as the tailbone that aids with spine and leg movement) are not connected properly.
• Genitals: For boys, the penis is tilted backwards and is often shorter and wider than normal. Whereas for girls, the clitoris is split.
• Abdominal wall muscles: Due to weakened areas, parts of the abdominal lining and intestines bulge out
• Belly button: Located in a lower position.

Cloacal exstrophy

This is the most severe form of the BEEC, in which the bladder and bowel are seen outside of the baby’s stomach, and it includes additional abnormalities found with epispadias and bladder exstrophy. Additionally, in some cases, the anus is not developed normally and is not separated from the bladder or respective genital.⁸ This variant of the BEEC affects 1 in 200,000 to 1 in 400,000.⁵

Atypical BEEC

This involves non- “classical” forms of BEEC, including duplicated, covered and pseudo exstrophies.⁴  There are even less common than the typical or “classical” forms of BEEC, which includes duplicate exstrophy,⁹ covered exstrophy,¹⁰ superior vesical fissure¹¹ and pseudo-exstrophy.¹² More information on these atypical forms of BEEC can be found on the Johns Hopkins’ website.¹³  

Each component of the BEEC can overlap, making diagnosis and treatment management a case-by-case scenario.

Diagnosis of BEEC

Before birth, ultrasounds can be used to suspect the BEEC occurring during foetal development, as the BEEC can occur in a few weeks after conception. If this is the case, regular ultrasound scans are vital to monitor foetal development during the pregnancy. Furthermore, after birth, a closer physical examination will make it more obvious to diagnose the severity of BEEC and take further actions to treat the abnormality. Further diagnostic imaging tools, used to understand the severity of the complex more, involves the use of x-ray scans, foetal Magnetic Resonance Imaging (MRI) scans and ultrasounds. But also immediately after birth, babies diagnosed with any form of the BEEC need to be placed in intensive care or a special care baby unit to ensure that they are stabilised and receive the best treatment.^7-8

Treatment of BEEC

The primary route for treating BEEC is via the use of surgery. Parents are informed by medical professionals on what the best steps are to achieve immediate treatment and progression. As well as asking for parental consent to proceed with treatment, surgery reconstruction is the primary treatment used for the following:^4,7-8

• Closure of the bladder
• Closure of the pelvic bones
• Reconstruction of the stomach wall
• Reconstruction of the genitalia
• Reconstruction of bowel
• Formation of stoma (hole in baby’s stomach to pass faeces)

Surgery to correct the malformations of the organs and/or body systems does not occur at the same time. The timing of when surgical operations will occur depends on the severity of the complex. For instance, if a baby is not able to pass faeces normally due to bowel malformation, immediate surgery is performed, or at least a few weeks after birth, in order to reconstruct the bowel as well as make a small hole in the stomach (known as a stoma) to ensure that the baby can pass faeces. More information on more of the procedures considered after birth can be found on the Great Ormond Street Hospital for Children’s website.^7-8

It is important to ensure that the organs within this region are protected during surgical operations. Also, it is important to monitor their function, as surgery reconstruction is supposed to aid with preventing further abnormalities of the organs and/or body systems. Therefore, in addition to surgery, monitoring strategies must be in place to assess the effectiveness of surgical treatment.^7-8

Management of BEEC

Babies are monitored over time, via the use of:^7-8,14

• Regular check-ups
• Regular blood and imaging tests
• Antibiotics to prevent infection
• Bladder control training

Monitoring and progression of treatment requires a multi-disciplinary approach involving a variety of medical professionals who specialise in different aspects of BEEC, including paediatric doctors, gynaecologists, urologists, radiologists, psychologists, and surgeons. Monitoring can continue throughout childhood into puberty to optimise quality of life, especially to ensure that the three separate channels, urethra, anus and genitalia, are functioning normally.^1,7-8

A study conducted on a small sample of adults with BEEC found that they have:⁶

• Lower urinary tract symptoms
• High rate of incontinence (lack of bladder control)
• Low to some degree of bother because of their disorder
• Quality of life and sexual function were similar to general population

However, caution should be taken as this study had a small sample size and response rate. Thus, it is vital for more research on adults with BEEC to ensure that they are provided with counselling and improved long-term management.⁶ This includes the development of medical health apps, such as the “We the BE '' to raise more awareness and support those within the BEEC community.¹⁵

Summary

The Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex (BEEC) is a rare congenital problem affecting several organs and body systems within the abdominal midline region, affecting body systems and organs including the bladder, urethra and genitals. There are different severities that a baby can develop, ranging from exstrophy to cloacal exstrophy.  BEEC can be diagnosed via the use of ultrasounds prenatally but can be successfully confirmed via closer physical examination after birth. At the moment, primary treatment involves the use of surgery to correct the malformations. More awareness is necessary to understand the cause of BEEC, as it is unclear how the organs and vital body systems stop growing normally during foetal development. Moreover, this can be achieved through the use of clinical studies. In addition, this will significantly help with improving early diagnosis, treatment management and quality of life for ethos within the BEEC community.

FAQs

What causes the BEEC during foetal development?

As BEEC is a rare congenital (present at birth) problem, it is unclear what causes the abnormal development of organs and body systems within the abdominal midline region. There is no conclusive data to suggest that genetics are the cause of the BEEC complex.⁵ Although a study concluded that there is a 1 in 70 chance that children of BEEC patients could develop the rare disorder, as well as an increase of BEEC incidences via IVF pregnancies.¹⁴

What other malformations is the BEEC complex associated with?

The BEEC is associated with a variety of organ and body systems malformations including:^7-8

• Esophageal atresia and tracheo-oesophageal fistula: A rare condition that affects the oesophagus (tube food passes through) and/or trachea (windpipe) development¹⁶
• Structural heart problems
• Structural problems with the spine such as spina bifida: Malformation of baby’s spine and spinal cord during foetal development¹⁷ 
• Hydronephrosis: Swollen kidneys due to urine build-up¹⁸
• Vesicoureteral reflux: Abnormal backflow of urine from the bladder back to the kidneys¹⁹
• Duplex kidney: A child that has a double kidney on one side²⁰